Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome

Abstract

We report unpredictable atypical splicing in the <i>COL4A5</i> gene in male patients with XLAS and reveal that renal prognosis differs significantly for patients with truncating versus nontruncating splicing abnormalities. Our results suggest that splicing modulation should be explored as a therapy for XLAS with truncating mutations.